Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2L
Variant:p.L152P

ATXN2L

114 papers

RefSeq Summary

This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerat...

Pfam Domains

SM-ATXaa 120–196UCSCAtaxin 2 SM domain
LsmADaa 264–332UCSCLsmAD domain
PAM2aa 660–675UCSCAtaxin-2 C-terminal region

Gene Aliases

HGNC Name

ataxin 2 like

HGNC Alias Symbols

A2lp; A2D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007245.4
p.L152P
c.455T>C
Surrounding Variants
1 paper
NM_007245.4
p.T151M
c.452C>T
1 paper
NM_007245.4
p.Y145F
c.434A>T
1 paper
NM_007245.4
p.T143I
c.428C>T
1 paper
NM_007245.4
p.N141fs
c.421_422fs
1 paper
NM_007245.4
p.N141insFs
c.422_423ins7
1 paper
NM_007245.4
p.T128K
c.383C>A
1 paper
NM_007245.4
p.T128S
c.382A>T
1 paper
NM_007245.4
p.L127I
c.379C>A
1 paper
NM_007245.4
p.H125N
c.373C>A
1 paper
NM_007245.4
p.K155_F156Splc
c.466-46T>C
1 paper
NM_007245.4
p.E157Q
c.469G>C
1 paper
NM_007245.4
p.A162D
c.485C>A
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